Cystic Fibrosis


By Maddie Gilmore

Introduction

Cystic Fibrosis (CF) is a progressive genetic disease that affects the airways of the lungs. It also can affect the pancreas, kidneys, and reproductive organs. Both parents have to carry a defective gene for it to be passed on to their child. The mutation of the gene is found on chromosome 7. The defective gene affects the production of the protein cystic fibrosis transmembrane conductance regulator (CFTR) which helps regulate the mucus, sweat, saliva, tears, and digestive enzymes of the body. People with Cystic Fibrosis do not have adequate amounts of (CFTR) because the body destroys the deformed protein.

Screen Shot 2017-02-22 at 16.05.47.png


Symptoms

Mucus filled airways of the lungs
Chronic coughing and wheezing
Persistent lung infections
Skin that tastes salty
Growth and weight issues
Male infertility
Digestive Issues


Screen Shot 2017-02-22 at 19.53.06.png



Statistics

If both parents are carriers:
  1. 25 % chance that their child will have CF
  2. 25% chance that their child will not have CF
  3. 50 % chance that their child will be a carrier but not have CF

Life expectancy in 1980- 14 years
Life expectancy in 2015- 37.5 years
Most commonly found in Caucasian people
One in thirty Americans are carriers
There are over 1,700 gene mutations for Cystic Fibrosis.

Diagnosis

Genetic testing
Sweat testing
Sputum testing
Chest X-rays

Treatments

There is currently no cure for Cystic Fibrosis but there are therapies and medications to help prolong life expectancy and alleviate some of the symptoms.


Medications:
Mucus thinners
Antibiotics
Bronchodilators
Digestive enzymes
Anti-inflammatory medications


Therapies:
Physical therapy of the chest
Oxygen therapy
CFTR Modulator Therapy will help with select gene mutations
Lung transplant

Videos











Citations

National Institutes of Health. U.S. Department of Health and Human Services, 13 Dec. 2013. Web. 22 Feb. 2017
"Cystic fibrosis and the basic problem." Cystic fibrosis and the basic problem. Leeds Regional Adult and Pediatric Cystic Fibrosis, Apr. 2008. Web. 22 Feb. 2017
"Cystic Fibrosis Foundation." About Cystic Fibrosis | CF Foundation. N.p., n.d. Web. 22 Feb. 2017
Wpadmin. "17 Amazing Cystic Fibrosis Life Expectancy Statistics." HRFnd. N.p., 27 Jan. 2015. Web. 22 Feb. 2017
2016 Cystic Fibrosis Foundation Video. YouTube, 02 Feb. 2016. Web. 23 Feb. 2017
Cystic fibrosis - causes, symptoms, diagnosis, treatment & pathology. YouTube, 31 Aug. 2016. Web. 23 Feb. 2017